University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, the Netherlands; UMCG Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), Groningen, the Netherlands.
UMCG Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Department of Pediatrics, Beatrix Children's Hospital UMCG, Groningen, the Netherlands.
Eur J Paediatr Neurol. 2024 Mar;49:100-105. doi: 10.1016/j.ejpn.2024.02.016. Epub 2024 Mar 1.
Early onset ataxia (EOA) and Early Onset Dystonia (EOD) are movement disorders developing in young people (age <25 per definition). These disorders result from dysfunctional networks involving the cerebellum and basal ganglia. As these structures are also important for cognition, cognitive deficits can be expected in EOA and EOD. EOA and EOD sometimes co-occur, but in those cases the predominant phenotype is determining. A pending question is whether predominantly EOA and EOD have different profiles of cognitive impairment.
We investigated whether cognitive functions were impaired in patients with either predominant EOA or predominant EOD and whether cognitive profiles differed between both patient groups.
The sample consisted of 26 EOA and 26 EOD patients with varying etiology but similar duration and severity of the disorder. Patient samples were compared to a group of 26 healthy controls, all matched on age and gender. All participants underwent neuropsychological testing for verbal intelligence, memory, working memory, attention/cognitive speed, executive functions, emotion recognition and language.
EOA and EOD patients both performed significantly worse than healthy controls on tests of verbal intelligence, working memory and executive functions. Additionally, attention/cognitive speed and emotion recognition were impaired in the EOA group. Compared to EOD, EOA patients performed worse on attention/cognitive speed and verbal intelligence.
Our results show overall similar profiles of cognitive deficits in both patient groups, but deficits were more pronounced in the patients with EOA. This suggests that more severe cognitive impairment is related to more severe cerebellar network dysfunction.
早发性共济失调（EOA）和早发性肌张力障碍（EOD）是在年轻人（<25 岁定义）中发展的运动障碍。这些疾病是由涉及小脑和基底节的功能障碍网络引起的。由于这些结构对认知也很重要，因此可以预期 EOA 和 EOD 会出现认知缺陷。EOA 和 EOD 有时会同时发生，但在这些情况下，主要表型是决定性的。一个悬而未决的问题是，主要的 EOA 和 EOD 是否具有不同的认知障碍特征。
我们研究了主要表现为 EOA 或 EOD 的患者的认知功能是否受损，以及这两个患者组之间的认知特征是否存在差异。
样本包括 26 名 EOA 和 26 名 EOD 患者，其病因不同，但疾病的持续时间和严重程度相似。患者样本与一组 26 名健康对照进行了比较，所有对照均在年龄和性别上匹配。所有参与者都接受了神经心理学测试，包括言语智力、记忆、工作记忆、注意力/认知速度、执行功能、情绪识别和语言。
EOA 和 EOD 患者在言语智力、工作记忆和执行功能测试中的表现均明显差于健康对照组。此外，EOA 组的注意力/认知速度和情绪识别也受损。与 EOD 相比，EOA 患者在注意力/认知速度和言语智力方面表现更差。
我们的结果表明，这两个患者组的认知缺陷总体相似，但 EOA 患者的缺陷更为明显。这表明更严重的认知损伤与更严重的小脑网络功能障碍有关。
